Incidental Mutation 'IGL03369:Runx1t1'
| ID |
420237 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Runx1t1
|
| Ensembl Gene |
ENSMUSG00000006586 |
| Gene Name |
RUNX1 translocation partner 1 |
| Synonyms |
ETO, Cbfa2t1h, MTG8 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
IGL03369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
13743436-13893649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13881107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 469
(S469F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006761]
[ENSMUST00000098256]
[ENSMUST00000098257]
[ENSMUST00000105566]
|
| AlphaFold |
Q61909 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006761
AA Change: S449F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006761
Gene: ENSMUSG00000006586
AA Change: S449F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
96 |
N/A |
INTRINSIC |
|
TAFH
|
102 |
192 |
1.12e-53 |
SMART |
|
low complexity region
|
266 |
277 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
317 |
383 |
6.9e-42 |
PFAM |
|
SCOP:d1gpua1
|
384 |
454 |
7e-3 |
SMART |
|
PDB:2KYG|C
|
417 |
447 |
2e-12 |
PDB |
|
Pfam:zf-MYND
|
495 |
531 |
4e-10 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
583 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098256
AA Change: S442F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095856
Gene: ENSMUSG00000006586
AA Change: S442F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
89 |
N/A |
INTRINSIC |
|
TAFH
|
95 |
185 |
1.12e-53 |
SMART |
|
low complexity region
|
259 |
270 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
310 |
376 |
7.3e-42 |
PFAM |
|
SCOP:d1gpua1
|
377 |
447 |
7e-3 |
SMART |
|
PDB:2KYG|C
|
410 |
440 |
2e-12 |
PDB |
|
Pfam:zf-MYND
|
488 |
524 |
2.5e-10 |
PFAM |
|
low complexity region
|
536 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098257
AA Change: S469F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095857
Gene: ENSMUSG00000006586
AA Change: S469F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
TAFH
|
122 |
212 |
1.12e-53 |
SMART |
|
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
337 |
403 |
5.2e-43 |
PFAM |
|
SCOP:d1gpua1
|
404 |
474 |
7e-3 |
SMART |
|
PDB:2KYG|C
|
437 |
467 |
2e-12 |
PDB |
|
Pfam:zf-MYND
|
515 |
551 |
6.7e-10 |
PFAM |
|
low complexity region
|
563 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105566
AA Change: S469F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127109
Gene: ENSMUSG00000006586
AA Change: S469F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
116 |
N/A |
INTRINSIC |
|
TAFH
|
122 |
212 |
1.12e-53 |
SMART |
|
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
|
Pfam:NHR2
|
337 |
403 |
3.6e-42 |
PFAM |
|
SCOP:d1gpua1
|
404 |
474 |
7e-3 |
SMART |
|
PDB:2KYG|C
|
437 |
467 |
2e-12 |
PDB |
|
Pfam:zf-MYND
|
515 |
551 |
1.4e-10 |
PFAM |
|
low complexity region
|
563 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
603 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous disruption of this gene results in increased perinatal lethality and surviving animals show severe growth retardation. The midgut is absent in 25% of mutant animals which could explain increased perinatal mortality. Surviving animals display thinned intestinal walls and dilated lumens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,380 (GRCm39) |
N72S |
possibly damaging |
Het |
| A2m |
G |
A |
6: 121,653,862 (GRCm39) |
|
probably null |
Het |
| Angptl3 |
A |
T |
4: 98,923,057 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,301,746 (GRCm39) |
D1106G |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,648,149 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,191 (GRCm39) |
H1371R |
probably benign |
Het |
| Chrna1 |
A |
T |
2: 73,400,789 (GRCm39) |
F247Y |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,879,923 (GRCm39) |
T813A |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,464,790 (GRCm39) |
V414A |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,465,937 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
G |
2: 62,333,699 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,396 (GRCm39) |
V385D |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,088,008 (GRCm39) |
|
probably null |
Het |
| Gorasp2 |
G |
A |
2: 70,513,336 (GRCm39) |
G201D |
probably damaging |
Het |
| Gp2 |
T |
A |
7: 119,050,783 (GRCm39) |
Q316L |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,696 (GRCm39) |
I202V |
probably damaging |
Het |
| Gsta3 |
A |
G |
1: 21,335,173 (GRCm39) |
K218R |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,686,340 (GRCm39) |
T1195I |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,514 (GRCm39) |
R488G |
possibly damaging |
Het |
| Mapt |
A |
T |
11: 104,173,259 (GRCm39) |
Y18F |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,544,143 (GRCm39) |
V12A |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,124,936 (GRCm39) |
E457G |
possibly damaging |
Het |
| Mybl1 |
T |
A |
1: 9,742,780 (GRCm39) |
K609N |
probably damaging |
Het |
| Ncaph2 |
T |
G |
15: 89,247,858 (GRCm39) |
V75G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,068,049 (GRCm39) |
Y5795H |
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,854,459 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
T |
C |
10: 129,638,340 (GRCm39) |
D18G |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,276,435 (GRCm39) |
I82N |
probably damaging |
Het |
| Plekhf2 |
G |
T |
4: 10,990,703 (GRCm39) |
T213K |
probably benign |
Het |
| Plekho2 |
C |
A |
9: 65,466,776 (GRCm39) |
G105W |
probably damaging |
Het |
| Polr3b |
G |
A |
10: 84,512,816 (GRCm39) |
G566D |
probably damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,892,504 (GRCm39) |
I1068T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,312,294 (GRCm39) |
E907V |
probably benign |
Het |
| Spata31e4 |
G |
T |
13: 50,857,200 (GRCm39) |
C946F |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,535,647 (GRCm39) |
D182V |
unknown |
Het |
| Uckl1 |
T |
C |
2: 181,211,982 (GRCm39) |
T375A |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,370 (GRCm39) |
|
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,909,517 (GRCm39) |
I14N |
probably benign |
Het |
| Wbp4 |
A |
T |
14: 79,707,558 (GRCm39) |
N184K |
probably damaging |
Het |
|
| Other mutations in Runx1t1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Runx1t1
|
APN |
4 |
13,835,663 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01600:Runx1t1
|
APN |
4 |
13,841,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Runx1t1
|
APN |
4 |
13,846,884 (GRCm39) |
missense |
probably benign |
|
|
IGL02172:Runx1t1
|
APN |
4 |
13,859,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02429:Runx1t1
|
APN |
4 |
13,865,294 (GRCm39) |
splice site |
probably benign |
|
|
IGL02730:Runx1t1
|
APN |
4 |
13,860,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02870:Runx1t1
|
APN |
4 |
13,889,867 (GRCm39) |
missense |
unknown |
|
|
IGL02879:Runx1t1
|
APN |
4 |
13,889,868 (GRCm39) |
missense |
unknown |
|
|
IGL03047:Runx1t1
|
UTSW |
4 |
13,865,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Runx1t1
|
UTSW |
4 |
13,835,628 (GRCm39) |
splice site |
probably benign |
|
|
R1884:Runx1t1
|
UTSW |
4 |
13,835,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2277:Runx1t1
|
UTSW |
4 |
13,771,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4059:Runx1t1
|
UTSW |
4 |
13,889,769 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4505:Runx1t1
|
UTSW |
4 |
13,889,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Runx1t1
|
UTSW |
4 |
13,889,864 (GRCm39) |
missense |
unknown |
|
|
R4586:Runx1t1
|
UTSW |
4 |
13,889,864 (GRCm39) |
missense |
unknown |
|
|
R4758:Runx1t1
|
UTSW |
4 |
13,865,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Runx1t1
|
UTSW |
4 |
13,837,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4796:Runx1t1
|
UTSW |
4 |
13,837,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4897:Runx1t1
|
UTSW |
4 |
13,771,459 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R4971:Runx1t1
|
UTSW |
4 |
13,837,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Runx1t1
|
UTSW |
4 |
13,865,231 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5091:Runx1t1
|
UTSW |
4 |
13,846,830 (GRCm39) |
nonsense |
probably null |
|
|
R5844:Runx1t1
|
UTSW |
4 |
13,881,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5968:Runx1t1
|
UTSW |
4 |
13,841,890 (GRCm39) |
splice site |
probably null |
|
|
R5993:Runx1t1
|
UTSW |
4 |
13,875,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5993:Runx1t1
|
UTSW |
4 |
13,841,863 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6329:Runx1t1
|
UTSW |
4 |
13,785,136 (GRCm39) |
start codon destroyed |
probably null |
0.38 |
|
R6915:Runx1t1
|
UTSW |
4 |
13,865,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7283:Runx1t1
|
UTSW |
4 |
13,846,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8251:Runx1t1
|
UTSW |
4 |
13,846,947 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9301:Runx1t1
|
UTSW |
4 |
13,875,477 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9376:Runx1t1
|
UTSW |
4 |
13,865,225 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9390:Runx1t1
|
UTSW |
4 |
13,865,932 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1088:Runx1t1
|
UTSW |
4 |
13,865,892 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2016-08-02 |
Incidental Mutation